Al-Sannaa, N.: search on Z-Library

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1

Early treatment with laronidase improves clinical outcomes in patients with attenuated MPS I: a retrospective case series analysis of nine sibships

Al-Sannaa, Nouriya A., Bay, Luisa, Barbouth, Deborah S., Benhayoun, Youssef, Goizet, Cyril, Guelbert, Norberto, Jones, Simon A., Kyosen, Sandra Obikawa, Martins, Ana Maria, Phornphutkul, Chanika, Reig

Journal:

Orphanet Journal of Rare Diseases

Year:

2015

Language:

english

File:

PDF, 1.33 MB

english, 2015

2

A founder nonsense variant in NUDT2 causes a recessive neurodevelopmental disorder in Saudi Arab children

Yavuz, H., Bertoli-Avella, A.M., Alfadhel, M., Al-Sannaa, N., Kandaswamy, K.K., Al-Tuwaijri, W., Rolfs, A., Brandau, O., Bauer, P.

Journal:

Clinical Genetics

Year:

2018

Language:

english

File:

PDF, 1.39 MB

english, 2018

3

Trigonomicrocephaly, severe micrognathia, large ears, atrioventricular septal defect, symmetrical cutaneous syndactyly of hands and feet, and multiple café-au-lait spots: New acrocraniofacial dysostosis syndrome?

Nouriya Al-Sannaa, C.R. Forrest, Ahmad S. Teebi

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 248 KB

english, 2001

4

Chondroectodermal Dysplasia –The Ellis-van Creveld Syndrome

Sultan Al-Khenaizan, N. Al-Sannaa, Ahmad S. Teebi

Journal:

Pediatric Dermatology

Year:

2001

Language:

english

File:

PDF, 90 KB

english, 2001

5

L-2-Hydroxyglutaric aciduria: Identification of ten novel mutations in theL2HGDHgene

J. O. Sass, F. Jobard, M. Topçu, A. Mahfoud, E. Werlé, S. Cure, N. Al-Sannaa, S. A. Alshahwan, M. Bataillard, L. Cimbalistiene, C. Grolik, V. Kemmerich, H. Omran, L. Sztriha, M. Tabache, J. Fischer

Journal:

Journal of Inherited Metabolic Disease

Year:

2008

Language:

english

File:

PDF, 93 KB

english, 2008

6

Mutations in Multidomain Protein MEGF8 Identify a Carpenter Syndrome Subtype Associated with Defective Lateralization

Stephen R.F. Twigg, Deborah Lloyd, Dagan Jenkins, Nursel E. Elçioglu, Christopher D.O. Cooper, Nouriya Al-Sannaa, Ali Annagür, Gabriele Gillessen-Kaesbach, Irina Hüning, Samantha J.L. Knight, Judith A

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 623 KB

english, 2012

7

A homozygous double mutation in SMN1 : a complicated genetic diagnosis of SMA

Kirwin, Susan M., Vinette, Kathy M. B., Gonzalez, Iris L., Abdulwahed, Hind Al, Al-Sannaa, Nouriya, Funanage, Vicky L.

Journal:

Molecular Genetics & Genomic Medicine

Year:

2013

Language:

english

File:

PDF, 844 KB

english, 2013

8

Cervical angioleiomyoma

Al-Sannaa, G. A., Al-Manea, M.

Journal:

Journal of Obstetrics & Gynaecology

Year:

2011

Language:

english

File:

PDF, 1.43 MB

english, 2011

9

Influence of Consanguinity on the Pattern of Familial Aggregation of Congenital Cardiovascular Anomalies in an Outpatient Population

Seliem, Mohamed A., Bou-Holaigah, Issam H., Al-Sannaa, Nouriya

Journal:

Community Genetics

Year:

2007

Language:

english

File:

PDF, 99 KB

english, 2007

10

Nail-Patella Syndrome: A Report of a Saudi Arab Family With an Autosomal Recessive Inheritance

Al-Dawsari, N., Al-Mokhadam, A., Al-Abdulwahed, H., Al-Sannaa, N.

Journal:

Journal of Cutaneous Medicine and Surgery

Year:

2015

File:

PDF, 483 KB

2015

11

Early treatment with laronidase improves clinical outcomes in patients with attenuated MPS I: Analysis of eight sibling pairs

Pleat, Rebecca, Al-Sannaa, Nouriya, Barbouth, Deborah S., Benhayoun, Youssef, Goizet, Cyril, Guelbert, Norberto, Jones, Simon A., Kyosen, Sandra, Martins, Ana Maria, Phornphutkul, Chanika, Reig, Celia

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 84 KB

english, 2015

12

Two-Dimensional Finite Element Analysis for Large Diameter Steel Flanges

Alghamdi, Abdulmalik A., Al-Sannaa, Muhsen S.

Journal:

Journal of Pressure Vessel Technology

Year:

2004

Language:

english

File:

PDF, 444 KB

english, 2004

13

[Society of Exploration Geophysicists SEG Technical Program Expanded Abstracts 2012 - ()] SEG Technical Program Expanded Abstracts 2012 - A broadband full azimuth land seismic case study from Saudi Arabia using a 100,000 channel recording system at 6 terabytes per day: acquisition and processing lessons learned

Pecholcs, Peter I., Al-Saad, Riyadh, Al-Sannaa, Muneer, Quigley, John, Bagaini, Claudio, Zarkhidze, Alexander, May, Roger, Guellili, Mohamed, Sinanaj, Sokol, Membrouk, Mohamed

Year:

2012

Language:

english

File:

PDF, 1.59 MB

english, 2012

14

Renal Involvement in Methylmalonic Aciduria

Alkhunaizi, Ahmed M., Al-Sannaa, Nouriya

Journal:

Kidney International Reports

Year:

2017

Language:

english

File:

PDF, 188 KB

english, 2017

15

The clinical and genetic Spectrum of Maroteaux-Lamy syndrome (Mucopolysaccharidosis VI) in the Eastern Province of Saudi Arabia

Al-Sannaa, Nouriya Abbas, Al-Abdulwahed, Hind Yousif, Al-Majed, Sami Ibrahim, Bouholaigah, Issam Hassan

Journal:

Journal of Community Genetics

Year:

2017

Language:

english

File:

PDF, 349 KB

english, 2017

16

Expanding the clinical and genetic spectra of NKX6-2 -related disorder

Baldi, C., Bertoli-Avella, A.M., Al-Sannaa, N., Alfadhel, M., Al-Thilhi, K., Alameer, S., Elmonairy, A.A., Al Shamsi, A.M., Abdelrahman, H.A., Al-Gazali, L., Shawli, A., Al Hakami, F., Yavuz, H., Kand

Journal:

Clinical Genetics

Year:

2018

Language:

english

File:

PDF, 1.42 MB

english, 2018

17

Webb–Dattani Syndrome: Report of a Saudi Arabian Family with a Novel Homozygous Mutation in the ARNT2 Gene

Al-Sannaa, Nouriya, Pepler, Alexander, Al-Abdulwahed, Hind, Al-Majed, Sami, Abdi, Rifat, Menzel, Moritz, Biskup, Saskia

Journal:

Journal of Pediatric Neurology

Year:

2018

Language:

english

File:

PDF, 253 KB

english, 2018

18

Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)

Bramswig, Nuria C., Bertoli-Avella, Aida M., Albrecht, Beate, Al Aqeel, Aida I., Alhashem, Amal, Al-Sannaa, Nouriya, Bah, Maissa, Bröhl, Katharina, Depienne, Christel, Dorison, Nathalie, Doummar, Dian

Journal:

Year:

2018

Language:

english

File:

PDF, 1.65 MB

english, 2018

19

Spondylo-epiphyseal dysplasia in two sibs due to a homozygous splicing variant in COL2A1

Al-Sannaa, N.A., Hoornaert, K.P., Van Laer, L., Al-Abdulwahed, H.Y., Mortier, G.

Journal:

European Journal of Medical Genetics

Year:

2020

File:

PDF, 3.46 MB

2020